We celebrate when my 12-year-old daughter Rebecca puts her school uniform on without refusing, when she doesn’t swear at her teachers or peers, and doesn’t lift up her dress to seek attention.
A good day is when Rebecca doesn’t throw herself on the ground in a tantrum or say she won’t go to her weekly after school therapy sessions. Most mornings, I feel like I have run a marathon before we get out the door.
Rebecca is more than a handful and that is okay, I love my daughter, she is my shining light. I’ve learnt to adjust my barometer of what’s ‘normal’. Rebecca has a rare genetic condition called FOXP1 Syndrome which is neurodevelopmental and behavioural in nature.
It took us nine years before doctors confirmed Rebecca’s diagnosis. No parent should have to wait that long or longer, when we have genome sequencing testing which yields a 30-50 per cent diagnosis rate. The trouble is, the test is not funded by Medicare.
Rare conditions are difficult to diagnose because for that exact reason, they are rare. Rebecca was the 13th person diagnosed worldwide with FOXP1 Syndrome. Now we estimate there are 100 because genomic sequencing testing makes it easier for a geneticist to pinpoint the disease-causing gene variant.
Symptoms include: dysmorphic features, global development delay, intellectual disability, issues with speech, poor fine and gross motor skills, impulsiveness, low muscle tone, autistic like features, anxiety, ADHD, obsessive compulsive traits, sensory reactivity symptoms and other significant behavioural problems.
Rebecca takes longer to learn things because of her cognitive ability and she has difficulty controlling her emotions which can lead to some pretty extreme behavioural issues and safety concerns.
I can cope with the intellectual disability and the language issues, but the behaviour is the hardest thing to deal with. This is why we are taking part in a pilot trial to determine if medical cannabis can help curb her extreme behaviour.
The Murdoch Children’s Research Institute (MCRI) trial uses medical cannabis produced by Tilray, a global leader in the field. It is a pilot study to see if it is possible to run a large scale in the future.